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Annular pancreas in two consecutive siblings: an extremely rare case
N Lainakis1, S Antypas, A Panagidis
11st Pediatric Surgery Department, Aghia Sophia Children's Hospital, Athens, Greece.
Summary
Annular pancreas, a rare congenital anomaly, was observed in siblings from consecutive pregnancies. This case adds to the limited understanding of familial transmission patterns for this condition.
Area of Science:
- Medical Genetics
- Pediatric Surgery
- Congenital Anomalies
Background:
- Annular pancreas is a rare congenital anomaly affecting pancreatic tissue encircling the duodenum.
- It can cause duodenal obstruction, presenting significant surgical challenges in neonates.
- Familial cases are exceptionally rare, with only six reported instances in the literature.
Observation:
- This report details two siblings, a brother and sister, diagnosed with annular pancreas from consecutive pregnancies.
- Both neonates presented with prenatal diagnosis of duodenal obstruction.
- Surgical intervention involved duodenoduodenal anastomosis; the female sibling also had a mobile ascending colon.
Findings:
- The reported familial occurrence is the seventh documented instance of annular pancreas within a single family.
- This case aligns with previously reported familial presentations, contributing to a total of 16 affected individuals across six families.
- A higher prevalence in females (12 females vs. 4 males) suggests a potential sex-influenced autosomal recessive inheritance pattern.
Implications:
- This case highlights the importance of recognizing familial patterns in rare congenital anomalies like annular pancreas.
- Further documentation of familial cases is crucial for elucidating potential genetic transmission mechanisms.
- Understanding the genetic basis may inform future genetic counseling and management strategies for affected families.